Gene
usp9
- ID
- ZDB-GENE-061019-1
- Name
- ubiquitin specific peptidase 9
- Symbol
- usp9 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type deubiquitinase activity and cysteine-type endopeptidase activity. Predicted to be involved in cell migration and protein deubiquitination. Predicted to act upstream of or within ubiquitin-dependent protein catabolic process. Predicted to be active in cytosol and nucleus. Is expressed in endodermal cell; myotome; nervous system; pectoral fin; and solid lens vesicle. Human ortholog(s) of this gene implicated in Y-linked spermatogenic failure 2; female-restricted syndromic X-linked intellectual disability 99; and non-syndromic X-linked intellectual disability 99. Orthologous to several human genes including USP9X (ubiquitin specific peptidase 9 X-linked).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Khut et al., 2007
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Köglsberger et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa8794 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11012 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16185 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18950 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18951 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21524 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21525 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa38749 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| female-restricted syndromic X-linked intellectual disability 99 | Alliance | Intellectual developmental disorder, X-linked 99, syndromic, female-restricted | 300968 |
| non-syndromic X-linked intellectual disability 99 | Alliance | Intellectual developmental disorder, X-linked 99 | 300919 |
| Y-linked spermatogenic failure 2 | Alliance | Spermatogenic failure, Y-linked, 2 | 415000 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018200 | Ubiquitin specific protease, conserved site |
| Domain | IPR001394 | Peptidase C19, ubiquitin carboxyl-terminal hydrolase |
| Domain | IPR021905 | Ubiquitin C-terminal hydrolase-like, DUF3517 |
| Domain | IPR028889 | Ubiquitin specific protease domain |
| Family | IPR050164 | Ubiquitin carboxyl-terminal hydrolases |
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Domain Details Per Protein
| Protein | Length | Armadillo-type fold | Papain-like cysteine peptidase superfamily | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | Ubiquitin carboxyl-terminal hydrolases | Ubiquitin C-terminal hydrolase-like, DUF3517 | Ubiquitin specific protease, conserved site | Ubiquitin specific protease domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q4FE55
|
2551 | |||||||
|
UniProtKB:A0A8M3AW48
|
2557 | |||||||
|
UniProtKB:A0A8M3B5Q3
|
2593 | |||||||
|
UniProtKB:A0A8M3B2R0
|
2558 | |||||||
|
UniProtKB:A0A8M2BF50
|
2594 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-216E24 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001077449 (1) | 7656 nt | ||
| Genomic | GenBank:BX545856 (1) | 209295 nt | ||
| Polypeptide | UniProtKB:A0A8M2BF50 (1) | 2594 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | USP9X | X | Conserved genome location (synteny) (1) Amino acid sequence comparison (2) | |
| Human | USP9Y | Y | Conserved genome location (synteny) (1) Amino acid sequence comparison (1) | |
| Mouse | Usp9x | X | Amino acid sequence comparison (2) | |
| Mouse | Usp9y | Y | Amino acid sequence comparison (1) Conserved genome location (synteny) (1) |
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Köglsberger, S., Cordero-Maldonado, M.L., Antony, P., Forster, J.I., Garcia, P., Buttini, M., Crawford, A., Glaab, E. (2017) Gender-Specific Expression of Ubiquitin-Specific Peptidase 9 Modulates Tau Expression and Phosphorylation: Possible Implications for Tauopathies. Molecular neurobiology. 54(10):7979-7993
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Tseng, L.C., Zhang, C., Cheng, C.M., Xu, H., Hsu, C.H., Jiang, Y.J. (2014) New classes of mind bomb-interacting proteins identified from yeast two-hybrid screens. PLoS One. 9:e93394
- Nourizadeh-Lillabadi, R., Lyche, J.L., Almaas, C., Stavik, B., Moe, S.J., Aleksandersen, M., Berg, V., Jakobsen, K.S., Stenseth, N.C., Utne Skåre, J., Alestrøm, P., and Ropstad, E. (2009) Transcriptional Regulation in Liver and Testis Associated with Developmental and Reproductive Effects in Male Zebrafish Exposed to Natural Mixtures of Persistent Organic Pollutants (POP). Journal of toxicology and environmental health. Part A. 72(3):112-130
- Tse, W.K., Eisenhaber, B., Ho, S.H., Ng, Q., Eisenhaber, F., and Jiang, Y.J. (2009) Genome-wide loss-of-function analysis of deubiquitylating enzymes for zebrafish development. BMC Genomics. 10:637
- Khut, P.Y., Tucker, B., Lardelli, M., and Wood, S.A. (2007) Evolutionary and Expression Analysis of the Zebrafish Deubiquitylating Enzyme, Usp9. Zebrafish. 4(2):95-101
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